Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT-CDG: Expanding the Clinical Spectrum With a Novel Pathogenic Variant

Ersoy M., Bitkin E. Ç., PAPATYA ÇAKIR E. D., Erdin S., Onay H.

Clinical Genetics, cilt.109, sa.4, ss.811-812, 2026 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Kısa Makale
  • Cilt numarası: 109 Sayı: 4
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1111/cge.70119
  • Dergi Adı: Clinical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Academic Search Ultimate (EBSCO), Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
  • Sayfa Sayıları: ss.811-812
  • Sağlık Bilimleri Üniversitesi Adresli: Evet